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Acute promyelocytic leukemia(APL)

MedGen UID:
44127
Concept ID:
C0023487
Neoplastic Process
Synonym: APL
SNOMED CT: APL - Acute promyelocytic leukemia (110004001); M3 - Acute promyelocytic leukemia (110004001); APML - Acute promyelocytic leukemia (110004001); Acute promyelocytic leukemia, FAB M3 (110004001); Acute promyelocytic leukemia (clinical) (110004001); Acute promyelocytic leukemia (28950004); Acute promyelocytic leukemia with PML::RARA fusion (28950004); Acute promyelocytic leukemia with t(15;17)(q24.1;q21.2) (28950004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Genes (locations): NUMA1 (11q13.4); RARA (17q21.2)
 
HPO: HP:0004836
Monarch Initiative: MONDO:0012883
OMIM®: 612376
Orphanet: ORPHA520

Definition

Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007). [from OMIM]

Additional description

From MedlinePlus Genetics
Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition.

People with acute promyelocytic leukemia are especially susceptible to developing bruises, small red dots under the skin (petechiae), nosebleeds, bleeding from the gums, blood in the urine (hematuria), or excessive menstrual bleeding. The abnormal bleeding and bruising occur in part because of the low number of platelets in the blood (thrombocytopenia) and also because the cancerous cells release substances that cause excessive bleeding.

The low number of red blood cells (anemia) can cause people with acute promyelocytic leukemia to have pale skin (pallor) or excessive tiredness (fatigue). In addition, affected individuals may heal slowly from injuries or have frequent infections due to the loss of normal white blood cells that fight infection. Furthermore, the leukemic cells can spread to the bones and joints, which may cause pain in those areas. Other general signs and symptoms may occur as well, such as fever, loss of appetite, and weight loss.

Acute promyelocytic leukemia is most often diagnosed around age 40, although it can be diagnosed at any age.  https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia

Clinical features

From HPO
Acute promyelocytic leukemia
MedGen UID:
44127
Concept ID:
C0023487
Neoplastic Process
Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007).
Abnormal granulocytopoietic cell morphology
MedGen UID:
868631
Concept ID:
C4023031
Finding
An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.

Conditions with this feature

Acute promyelocytic leukemia
MedGen UID:
44127
Concept ID:
C0023487
Neoplastic Process
Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007).

Professional guidelines

PubMed

Yilmaz M, Kantarjian H, Ravandi F
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Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Acute Myeloid Leukemia, 2023

DailyMed Drug Label, TRISENOX, 2021

Recent clinical studies

Etiology

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Diagnosis

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Yilmaz M, Kantarjian H, Ravandi F
Blood Cancer J 2021 Jun 30;11(6):123. doi: 10.1038/s41408-021-00514-3. PMID: 34193815Free PMC Article

Therapy

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Litzow MR
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Prognosis

Kantarjian HM, Kadia TM, DiNardo CD, Welch MA, Ravandi F
Cancer 2021 Apr 15;127(8):1186-1207. Epub 2021 Mar 18 doi: 10.1002/cncr.33477. PMID: 33734442
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Clinical prediction guides

Jin W, Dai Y, Chen L, Zhu H, Dong F, Zhu H, Meng G, Li J, Chen S, Chen Z, Fang H, Wang K
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Naymagon L, Mascarenhas J
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Recent systematic reviews

Bønløkke ST, Ommen HB, Hvas AM
Semin Thromb Hemost 2021 Jul;47(5):569-580. Epub 2021 May 31 doi: 10.1055/s-0041-1725099. PMID: 34058766
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Thromb Res 2019 Jun;178:1-6. Epub 2019 Mar 20 doi: 10.1016/j.thromres.2019.03.014. PMID: 30921533
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Leuk Lymphoma 2016;57(3):616-22. Epub 2015 Jul 28 doi: 10.3109/10428194.2015.1065977. PMID: 26110880
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Cochrane Database Syst Rev 2015 Jun 24;2015(6):CD008562. doi: 10.1002/14651858.CD008562.pub3. PMID: 26107113Free PMC Article
Rashidi A, Fisher SI
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